There are several reported alleles for this SNP. The rs1137617(C) and (T) alleles, as reported in the dbSNP/minus orientation, are both common and encode the same amino acid (tyrosine; TYR).

However, the rs1137617(A) allele is a nonsense mutation, encoding a stop codon, and it is considered pathogenic for cardiac arrhythmia by a (single) source in ClinVar. This is potentially inherited in a dominant manner.